ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.451G>A (p.Ala151Thr)

dbSNP: rs763233960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237593 SCV000294720 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237593 SCV000606123 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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